Next Article in Journal
Influence of Genetic Polymorphisms and Mutations in the Cardiac Pathology of Iron Overload in Thalassemia and Sickle Cell Anemia Patients: A Retrospective Study
Previous Article in Journal
1st Pan-Asian Conference on Haemoglobinopathies, 8–10 February 2012, Bangkok, Thailand
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Thalassemia Reports
Volume 2
Issue 1
10.4081/thal.2012.e2
thalassrep-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

Nonsense-Mediated Decay Mechanism Is a Possible Modifying Factor of Clinical Outcome in Nonsense cd39 Beta Thalassemia Genotype

by
Maria Concetta Renda
1,
Angela Vitrano
1,
Massimo Attanasio
2,
Emanuela Fecarotta
1,
Angela Piazza
1,
Antonino Giambona
1,
Germana Fiorentino
1,
Disma Renda
1,
Paolo Rigano
1,
Giuseppina Calvaruso
1,
Filippo Cassarà
1 and
Aurelio Maggio
1,*
1
U.O.C. Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, Ospedali Riuniti Villa Sofia-Cervello, 90146 Palermo, Italy
2
Dipartimento di Scienze Statistiche e Matematiche, Università degli Studi di Palermo, 90128 Palermo, Italy
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2012, 2(1), e2; https://doi.org/10.4081/thal.2012.e2
Submission received: 24 May 2012 / Revised: 23 August 2012 / Accepted: 28 September 2012 / Published: 20 November 2012

Abstract

Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome. An example of premature translation stop codons appearing for the first time is the β-globin cd39 mutation; when homozygous, this results in a severe phenotype. The aim of this study was to determine whether the homozygous nonsense cd39 may have a milder phenotype in comparison with IVS1,nt110/cd39 genotype. Genotypes have been identified from a cohort of 568 patients affected by β-thalassemia. These genotypes were compared with those found in 577 affected fetuses detected among 2292 prenatal diagnoses. The nine most common genotypes, each with an incidence rate of 1.5% or over, and together accounting for 80% of genotype frequencies, underwent statistical analysis. Genotype prevalence was calculated within the overall group. Results are expressed as proportions with 95% confidence intervals; p ≤ 0.05 was considered statistically significant. A binomial distribution was assumed for each group; z-tests were used to compare genotype frequencies observed in the patient group with frequencies in the affected fetus group. In the absence of selecting factors, prevalence of these two genotypes was compared between a cohort of 568 β-thalassemia patients (PTS) and 577 affected fetuses (FOET) detected during the same period. IVS1,nt110/cd39 was significantly more prevalent in FOET than PTS (p < 0.0001), while there was no significant difference in prevalence of cd39/cd39 in FOET compared with PTS (p = 0.524). These results suggest a cd39 genotype NMD mechanism may be associated with improved clinical outcomes in thalassemia major.
Keywords: nonsense-mediated mRNA decay; beta-thalassemia; clinical outcame; beta-globin gene mutations nonsense-mediated mRNA decay; beta-thalassemia; clinical outcame; beta-globin gene mutations

Share and Cite

MDPI and ACS Style

Renda, M.C.; Vitrano, A.; Attanasio, M.; Fecarotta, E.; Piazza, A.; Giambona, A.; Fiorentino, G.; Renda, D.; Rigano, P.; Calvaruso, G.; et al. Nonsense-Mediated Decay Mechanism Is a Possible Modifying Factor of Clinical Outcome in Nonsense cd39 Beta Thalassemia Genotype. Thalass. Rep. 2012, 2, e2. https://doi.org/10.4081/thal.2012.e2

AMA Style

Renda MC, Vitrano A, Attanasio M, Fecarotta E, Piazza A, Giambona A, Fiorentino G, Renda D, Rigano P, Calvaruso G, et al. Nonsense-Mediated Decay Mechanism Is a Possible Modifying Factor of Clinical Outcome in Nonsense cd39 Beta Thalassemia Genotype. Thalassemia Reports. 2012; 2(1):e2. https://doi.org/10.4081/thal.2012.e2

Chicago/Turabian Style

Renda, Maria Concetta, Angela Vitrano, Massimo Attanasio, Emanuela Fecarotta, Angela Piazza, Antonino Giambona, Germana Fiorentino, Disma Renda, Paolo Rigano, Giuseppina Calvaruso, and et al. 2012. "Nonsense-Mediated Decay Mechanism Is a Possible Modifying Factor of Clinical Outcome in Nonsense cd39 Beta Thalassemia Genotype" Thalassemia Reports 2, no. 1: e2. https://doi.org/10.4081/thal.2012.e2

APA Style

Renda, M. C., Vitrano, A., Attanasio, M., Fecarotta, E., Piazza, A., Giambona, A., Fiorentino, G., Renda, D., Rigano, P., Calvaruso, G., Cassarà, F., & Maggio, A. (2012). Nonsense-Mediated Decay Mechanism Is a Possible Modifying Factor of Clinical Outcome in Nonsense cd39 Beta Thalassemia Genotype. Thalassemia Reports, 2(1), e2. https://doi.org/10.4081/thal.2012.e2

Article Metrics

Back to TopTop